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Updated: Jun 4, 2025

Single-Molecule Fluorescence Visualization of DNA Polymerase Dynamics at G-Quadruplexes
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Published on: April 4, 2025

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G-四重复稳定导致人类PKD1的DNA断裂,揭示了ADPKD的第二次打击机制

Agata M Parsons1, Seth Byrne1, Jesse Kooistra1

  • 1Department of Biomedical Sciences, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA.

Nature communications
|January 2, 2025
PubMed
概括

人类PKD1中的关氨酸四重复基因结构激活了DNA损伤反应,导致基因断裂. 这解释了自体主导多囊性脏病和瘤抑制剂失活时的囊形成.

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